Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome

Tatsuhiko Yagihashi, Chiharu Torii, Reiko Takahashi, Mikimasa Omori, Rika Kosaki, Hiroshi Yoshihashi, Masahiro Ihara, Yasuyo Minagawa-Kawai, Junichi Yamamoto, Takao Takahashi, Kenjiro Kosaki*

*この研究の対応する著者

研究成果: Article査読

抄録

To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally beyond the common 1.5-Mb intervals observed in 10/11 patients. We formulated a linear equation describing the developmental age of the 10 patients with the common deletion; the developmental age of the patient with the 4.2-Mb deletion was significantly below the expectation (developmental age=0.51×chronological age). The large deletion may account for the severe intellectual disability; therefore, the use of array comparative genomic hybridization may provide practical information regarding individuals with Williams syndrome.

本文言語English
ページ(範囲)225-227
ページ数3
ジャーナルCongenital Anomalies
54
4
DOI
出版ステータスPublished - 2014 11月 1
外部発表はい

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 胎生学
  • 発生生物学

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